IthaID: 2095
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs7776054 | HGVS Name: | NC_000006.12:g.135097778A>G |
Context nucleotide sequence:
TTTGTAATTTGTGTTCTGCTTCTAC [A/G] ATAGACATTTTTCATGTCATTAGAT (Strand: +)
Also known as:
Comments: SNP associated with HbF level variation in the Cooperative Study of Sickle Cell Disease (CSSCD) and in a sickle cell disease cohort from Brazil. SNP associated with HbA2 levels in individuals from the SardiNIA study.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Anaemia [HP:0001903] |
Location
| Chromosome: | 6 |
|---|---|
| Locus: | NT_025741.15 |
| Locus Location: | 39588373 |
| Size: | 1 bp |
| Located at: | HBS1L-MYB |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American, Brazilian, Sardinian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH, DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease., Proc. Natl. Acad. Sci. U.S.A. , 105(33), 11869-74, 2008 PubMed
- Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F, Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels., Nat. Genet. , 47(11), 1264-71, 2015 PubMed
Created on 2013-09-12 11:51:55,
Last reviewed on 2019-07-04 16:12:27 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-12 11:51:55 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-05-17 18:21:16 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-02-20 14:46:08 | The IthaGenes Curation Team | Reviewed. Mutation comment and Clinical phenotype sections updated. Reference added. |
| 5 | 2017-02-20 14:47:30 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 6 | 2018-11-20 17:14:19 | The IthaGenes Curation Team | Reviewed. Locus added. |
| 7 | 2019-07-04 16:12:27 | The IthaGenes Curation Team | Reviewed. Location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07